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lukfor authored Oct 21, 2024
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Expand Up @@ -164,31 +164,36 @@ Note: the population id has to be the same as in the legend files.

### Example YAML

Here's an example YAML configuration for a reference panel. This configuration describes a reference panel named "HapMap 2" for an Imputation Server, including details about its version, data sources, and populations represented. The files are stored on AWS S3 and are directly consumed by the pipeline from there.
Here's an example YAML configuration for a reference panel. This configuration describes a reference panel named "HapMap 2" for an Imputation Server, including details about its version, data sources, and represented populations. The files are stored in subdirectories of the application and can be consumed by the pipeline from there.

```yaml
name: HapMap 2
description: HapMap2 Reference Panel for Imputation Server
name: HapMap 2 (GRCh37/hg19)
description: HapMap2 Reference Panel for Michigan Imputation Server
version: 2.0.0
website: http://imputationserver.sph.umich.edu
category: RefPanel
id: hapmap-2

properties:
id: hapmap2
genotypes: s3://cloudgene/refpanels/hapmap/m3vcfs/hapmap_r22.chr$chr.CEU.hg19.recode.m3vcf.gz
legend: s3://cloudgene/refpanels/hapmap/legends/hapmap_r22.chr$chr.CEU.hg19_impute.legend.gz
mapEagle: s3://cloudgene/refpanels/hapmap/map/genetic_map_hg19_withX.txt.gz
refEagle: s3://cloudgene/refpanels/hapmap/bcfs/hapmap_r22.chr$chr.CEU.hg19.recode.bcf
id: hapmap-2
genotypes: ${CLOUDGENE_APP_LOCATION}/msavs/hapmap_r22.chr$chr.CEU.hg19.recode.msav
sites: ${CLOUDGENE_APP_LOCATION}/sites/hapmap_r22.chr$chr.CEU.hg19_impute.sites.gz
mapEagle: ${CLOUDGENE_APP_LOCATION}/map/genetic_map_hg19_withX.txt.gz
refEagle: ${CLOUDGENE_APP_LOCATION}/bcfs/hapmap_r22.chr$chr.CEU.hg19.recode.bcf
build: hg19
qcFilter:
alleleSwitches: 100
populations:
- id: eur
name: EUR
samples: 60
- id: off
- id: "off"
name: Off
samples: -1
samples: -1
```
A full example of a reference panel, including all data and the cloudgene.yaml, can be downloaded [here](https://imputationserver.sph.umich.edu/resources/ref-panels/imputationserver2-hapmap2.zip).
### Note on `$chr` Variable

In the example YAML configuration provided, you may have noticed the presence of the `$chr` variable in some URLs. This variable is a placeholder for the chromosome number and will be replaced by the Nextflow pipeline.
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